{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5667867",
  "communityStandardTitle": [
    "NM_016169.4(SUFU):c.1085G>A (p.Arg362His)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1345495",
        "active": true,
        "id": "COSM1345495"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=459854[alleleid]",
        "alleleId": 459854,
        "preferredName": "NM_016169.4(SUFU):c.1085G>A (p.Arg362His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/453951",
        "RCV": [
          "RCV000526543",
          "RCV001017164",
          "RCV003470693"
        ],
        "variationId": 453951
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/10-104375087-G-A",
        "id": "10-104375087-G-A",
        "variant": "10:104375087 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.104375087G>A?assembly=hg19",
        "id": "chr10:g.104375087G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.102615330G>A?assembly=hg38",
        "id": "chr10:g.102615330G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/755390277",
        "rs": 755390277
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-104375087-G-A?dataset=gnomad_r2_1",
        "id": "10-104375087-G-A",
        "variant": "10:104375087 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-102615330-G-A?dataset=gnomad_r3",
        "id": "10-102615330-G-A",
        "variant": "10:102615330 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-102615330-G-A?dataset=gnomad_r4",
        "id": "10-102615330-G-A",
        "variant": "10:102615330 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 102615330,
          "referenceAllele": "G",
          "start": 102615329
        }
      ],
      "hgvs": [
        "NC_000010.11:g.102615330G>A",
        "CM000672.2:g.102615330G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 104375087,
          "referenceAllele": "G",
          "start": 104375086
        }
      ],
      "hgvs": [
        "NC_000010.10:g.104375087G>A",
        "CM000672.1:g.104375087G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 104365077,
          "referenceAllele": "G",
          "start": 104365076
        }
      ],
      "hgvs": [
        "NC_000010.9:g.104365077G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 116369,
          "referenceAllele": "G",
          "start": 116368
        }
      ],
      "hgvs": [
        "NG_021338.1:g.116369G>A",
        "LRG_521:g.116369G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003579"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1266,
          "referenceAllele": "G",
          "start": 1265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "ENST00000369902.8:c.1085G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358918.4:p.Arg362His",
        "hgvsWellDefined": "ENSP00000358918.4:p.Arg362His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750502",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369902.8:c.1085G>A"
          },
          "RefSeq": {
            "hgvs": "NM_016169.4:c.1085G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358918.4:p.Arg362His"
          },
          "RefSeq": {
            "hgvs": "NP_057253.2:p.Arg362His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1231,
          "referenceAllele": "G",
          "start": 1230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "ENST00000369899.6:c.1085G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358915.2:p.Arg362His",
        "hgvsWellDefined": "ENSP00000358915.2:p.Arg362His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267762"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1251,
          "referenceAllele": "G",
          "start": 1250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "ENST00000369902.7:c.1085G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358918.3:p.Arg362His",
        "hgvsWellDefined": "ENSP00000358918.3:p.Arg362His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267763"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1159,
          "referenceAllele": "G",
          "start": 1158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "ENST00000423559.2:c.1085G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411597.2:p.Arg362His",
        "hgvsWellDefined": "ENSP00000411597.2:p.Arg362His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287820"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826141344",
      "coordinates": [
        {
          "allele": "A",
          "end": 1276,
          "referenceAllele": "G",
          "start": 1275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "NM_001178133.1:c.1085G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171604.1:p.Arg362His",
        "hgvsWellDefined": "NP_001171604.1:p.Arg362His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015890"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658676808",
      "coordinates": [
        {
          "allele": "A",
          "end": 1276,
          "referenceAllele": "G",
          "start": 1275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "NM_016169.3:c.1085G>A",
        "LRG_521t1:c.1085G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_057253.2:p.Arg362His",
        "hgvsWellDefined": "NP_057253.2:p.Arg362His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034493"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1279,
          "referenceAllele": "G",
          "start": 1278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539858.1:c.1088G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538160.1:p.Arg363His",
        "hgvsWellDefined": "XP_011538160.1:p.Arg363His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106808"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1204,
          "referenceAllele": "G",
          "start": 1203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539859.1:c.1088G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538161.1:p.Arg363His",
        "hgvsWellDefined": "XP_011538161.1:p.Arg363His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106809"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1276,
          "referenceAllele": "G",
          "start": 1275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539860.1:c.1085G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538162.1:p.Arg362His",
        "hgvsWellDefined": "XP_011538162.1:p.Arg362His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106810"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1115,
          "referenceAllele": "G",
          "start": 1114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539861.1:c.1088G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538163.1:p.Arg363His",
        "hgvsWellDefined": "XP_011538163.1:p.Arg363His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106811"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1133,
          "referenceAllele": "G",
          "start": 1132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539862.1:c.1010G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538164.1:p.Arg337His",
        "hgvsWellDefined": "XP_011538164.1:p.Arg337His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106812"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1019,
          "referenceAllele": "G",
          "start": 1018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539863.1:c.914G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538165.1:p.Arg305His",
        "hgvsWellDefined": "XP_011538165.1:p.Arg305His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106813"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1116,
          "referenceAllele": "G",
          "start": 1115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539864.1:c.1088G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538166.1:p.Arg363His",
        "hgvsWellDefined": "XP_011538166.1:p.Arg363His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106814"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1269,
          "referenceAllele": "G",
          "start": 1268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539858.3:c.1088G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538160.1:p.Arg363His",
        "hgvsWellDefined": "XP_011538160.1:p.Arg363His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553830"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1266,
          "referenceAllele": "G",
          "start": 1265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539860.3:c.1085G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538162.1:p.Arg362His",
        "hgvsWellDefined": "XP_011538162.1:p.Arg362His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553831"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1269,
          "referenceAllele": "G",
          "start": 1268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539861.3:c.1088G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538163.1:p.Arg363His",
        "hgvsWellDefined": "XP_011538163.1:p.Arg363His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553832"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1092,
          "referenceAllele": "G",
          "start": 1091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539863.3:c.914G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538165.1:p.Arg305His",
        "hgvsWellDefined": "XP_011538165.1:p.Arg305His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553833"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1269,
          "referenceAllele": "G",
          "start": 1268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_011539864.3:c.1088G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538166.1:p.Arg363His",
        "hgvsWellDefined": "XP_011538166.1:p.Arg363His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553834"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1509,
          "referenceAllele": "G",
          "start": 1508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "XM_017016323.1:c.1010G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871812.1:p.Arg337His",
        "hgvsWellDefined": "XP_016871812.1:p.Arg337His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568792"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826141344",
      "coordinates": [
        {
          "allele": "A",
          "end": 1266,
          "referenceAllele": "G",
          "start": 1265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "NM_001178133.2:c.1085G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171604.1:p.Arg362His",
        "hgvsWellDefined": "NP_001171604.1:p.Arg362His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678956"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658676808",
      "coordinates": [
        {
          "allele": "A",
          "end": 1266,
          "referenceAllele": "G",
          "start": 1265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "NM_016169.4:c.1085G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_057253.2:p.Arg362His",
        "hgvsWellDefined": "NP_057253.2:p.Arg362His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697677",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369902.8:c.1085G>A"
          },
          "RefSeq": {
            "hgvs": "NM_016169.4:c.1085G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358918.4:p.Arg362His"
          },
          "RefSeq": {
            "hgvs": "NP_057253.2:p.Arg362His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}